| 150420291 | CV1179048 | single nucleotide variant | NM_012243.3(SLC35A3):c.*12C>T | not provided [RCV001551474] | likely benign | 1 | 100022488 | 100022488 | Human | | name |
| 150464989 | CV1277165 | single nucleotide variant | NM_012243.3(SLC35A3):c.-57C>T | not provided [RCV001710459] | benign | 1 | 99970124 | 99970124 | Human | | name |
| 150474290 | CV1272311 | single nucleotide variant | NM_012243.3(SLC35A3):c.*145C>T | not provided [RCV001695849] | benign | 1 | 100022621 | 100022621 | Human | | name |
| 127258192 | CV1065906 | single nucleotide variant | NM_012243.3(SLC35A3):c.465+7A>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001401646] | likely benign | 1 | 100007163 | 100007163 | Human | 1 | name |
| 127317661 | CV1130087 | single nucleotide variant | NM_012243.3(SLC35A3):c.887+8G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001503451] | likely benign | 1 | 100017823 | 100017823 | Human | 1 | name |
| 152071274 | CV1628611 | single nucleotide variant | NM_012243.3(SLC35A3):c.466-5T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002169322] | likely benign | 1 | 100011360 | 100011360 | Human | 1 | name |
| 152982129 | CV1679099 | single nucleotide variant | NM_012243.3(SLC35A3):c.-18-1G>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002248445] | pathogenic | 1 | 99993536 | 99993536 | Human | 1 | name |
| 243060643 | CV2408643 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-1G>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003136772] | uncertain significance | 1 | 100017681 | 100017681 | Human | 1 | name |
| 405095610 | CV2961216 | single nucleotide variant | NM_012243.3(SLC35A3):c.635-2A>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745844] | likely pathogenic | 1 | 100015300 | 100015300 | Human | 1 | name |
| 405246283 | CV2963472 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+9C>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745928] | likely benign | 1 | 99993750 | 99993750 | Human | 1 | name |
| 405246754 | CV2974601 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-1G>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745977] | likely pathogenic | 1 | 99999260 | 99999260 | Human | 1 | name |
| 405080194 | CV3048741 | duplication | NM_012243.3(SLC35A3):c.635-3dup | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743493] | benign | 1 | 100015291 | 100015292 | Human | 1 | name |
| 405132881 | CV3163845 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+7C>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003854833] | likely benign | 1 | 100015427 | 100015427 | Human | 1 | name |
| 402505047 | CV3181521 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+8A>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003878355] | likely benign | 1 | 100015428 | 100015428 | Human | 1 | name |
| 597694630 | CV3726560 | single nucleotide variant | NM_012243.3(SLC35A3):c.887+1G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005046606] | likely pathogenic | 1 | 100017816 | 100017816 | Human | 1 | name |
| 597955528 | CV3787134 | single nucleotide variant | NM_012243.3(SLC35A3):c.888-8T>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005122019] | likely benign | 1 | 100022378 | 100022378 | Human | 1 | name |
| 597904898 | CV3803607 | single nucleotide variant | NM_012243.3(SLC35A3):c.343-9C>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005153340] | likely benign | 1 | 100007025 | 100007025 | Human | 1 | name |
| 13624156 | CV514888 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+9T>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651924]|SLC35A3-related disorder [RCV003980272] | likely benign | 1 | 100015429 | 100015429 | Human | 1 | name , trait , alternate_id |
| 13624158 | CV514891 | deletion | NM_012243.3(SLC35A3):c.887+7del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651926] | likely benign | 1 | 100017822 | 100017822 | Human | 1 | name |
| 13624151 | CV516200 | single nucleotide variant | NM_012243.3(SLC35A3):c.342+1G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651919] | likely pathogenic|uncertain significance | 1 | 99999416 | 99999416 | Human | 1 | name |
| 13624150 | CV516288 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+5G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651918] | uncertain significance | 1 | 99993746 | 99993746 | Human | 1 | name |
| 15105575 | CV729896 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+8A>G | Arthrogryposis multiplex congenita [RCV001274674]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000893107] | likely benign|uncertain significance | 1 | 100015428 | 100015428 | Human | 3 | name |
| 15144065 | CV774346 | single nucleotide variant | NM_012243.3(SLC35A3):c.888-6A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001431043] | likely benign | 1 | 100022380 | 100022380 | Human | 1 | name |
| 21404085 | CV801580 | duplication | NM_012243.3(SLC35A3):c.634+2dup | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001004107] | pathogenic|likely pathogenic | 1 | 100011534 | 100011535 | Human | 1 | name |
| 38490708 | CV960394 | deletion | NM_012243.3(SLC35A3):c.635-3del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001238991] | uncertain significance | 1 | 100015292 | 100015292 | Human | 1 | name |
| 40905581 | CV977420 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-3C>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001278807] | uncertain significance | 1 | 100017679 | 100017679 | Human | 1 | name |
| 126726366 | CV987847 | single nucleotide variant | NM_012243.3(SLC35A3):c.342+4C>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001302864] | uncertain significance | 1 | 99999419 | 99999419 | Human | 1 | name |
| 127246753 | CV1065910 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-10A>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001399023]|not provided [RCV004711584] | likely benign | 1 | 100017672 | 100017672 | Human | 1 | name |
| 150436816 | CV1220609 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+79A>G | not provided [RCV001609593] | benign | 1 | 99993820 | 99993820 | Human | | name |
| 150504295 | CV1223921 | single nucleotide variant | NM_012243.3(SLC35A3):c.-18-72C>T | not provided [RCV001621570] | benign | 1 | 99993465 | 99993465 | Human | | name |
| 150476501 | CV1239889 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-25A>G | not provided [RCV001652066] | benign | 1 | 100017657 | 100017657 | Human | | name |
| 152122339 | CV1613523 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+10T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002081725] | likely benign | 1 | 99993751 | 99993751 | Human | 1 | name |
| 152073661 | CV1615483 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+13G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002091931] | likely benign | 1 | 99993754 | 99993754 | Human | 1 | name |
| 405096262 | CV2871797 | single nucleotide variant | NM_012243.3(SLC35A3):c.343-18T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583383] | likely benign | 1 | 100007016 | 100007016 | Human | 1 | name |
| 405136280 | CV2896006 | deletion | NM_012243.3(SLC35A3):c.754-18del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583674] | likely benign | 1 | 100017664 | 100017664 | Human | 1 | name |
| 405136382 | CV2902709 | deletion | NM_012243.3(SLC35A3):c.888-13del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583683] | likely benign | 1 | 100022372 | 100022372 | Human | 1 | name |
| 405136904 | CV2907245 | single nucleotide variant | NM_012243.3(SLC35A3):c.343-15T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583735] | likely benign | 1 | 100007019 | 100007019 | Human | 1 | name |
| 405137795 | CV2907457 | single nucleotide variant | NM_012243.3(SLC35A3):c.466-18A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583750] | likely benign | 1 | 100011347 | 100011347 | Human | 1 | name |
| 405137089 | CV2907586 | single nucleotide variant | NM_012243.3(SLC35A3):c.343-14G>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583754] | likely benign | 1 | 100007020 | 100007020 | Human | 1 | name |
| 405084948 | CV2979671 | single nucleotide variant | NM_012243.3(SLC35A3):c.634+15T>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744273] | likely benign | 1 | 100011548 | 100011548 | Human | 1 | name |
| 405086462 | CV3002725 | single nucleotide variant | NM_012243.3(SLC35A3):c.466-12C>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744399] | likely benign | 1 | 100011353 | 100011353 | Human | 1 | name |
| 405088727 | CV3004683 | single nucleotide variant | NM_012243.3(SLC35A3):c.887+17T>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744471] | likely benign | 1 | 100017832 | 100017832 | Human | 1 | name |
| 405076745 | CV3026043 | single nucleotide variant | NM_012243.3(SLC35A3):c.187+20G>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743202] | likely benign | 1 | 99993761 | 99993761 | Human | 1 | name |
| 405080095 | CV3048368 | single nucleotide variant | NM_012243.3(SLC35A3):c.342+18C>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743485] | likely benign | 1 | 99999433 | 99999433 | Human | 1 | name |
| 405079410 | CV3053231 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-14A>T | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743402] | likely benign | 1 | 99999247 | 99999247 | Human | 1 | name |
| 405081061 | CV3055811 | single nucleotide variant | NM_012243.3(SLC35A3):c.634+12A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743503] | likely benign | 1 | 100011545 | 100011545 | Human | 1 | name |
| 405090796 | CV3076201 | duplication | NM_012243.3(SLC35A3):c.887+25dup | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745185] | benign | 1 | 100017833 | 100017834 | Human | 1 | name |
| 405092008 | CV3077590 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+16T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745274] | likely benign | 1 | 100015436 | 100015436 | Human | 1 | name |
| 405090711 | CV3079134 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+15G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745179] | likely benign | 1 | 100015435 | 100015435 | Human | 1 | name |
| 405105756 | CV3139941 | single nucleotide variant | NM_012243.3(SLC35A3):c.342+12A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003835352] | likely benign | 1 | 99999427 | 99999427 | Human | 1 | name |
| 405242860 | CV3164647 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+12A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003867728] | likely benign | 1 | 100015432 | 100015432 | Human | 1 | name |
| 402469414 | CV3174747 | single nucleotide variant | NM_012243.3(SLC35A3):c.342+14A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003873857] | likely benign | 1 | 99999429 | 99999429 | Human | 1 | name |
| 404978903 | CV3176005 | single nucleotide variant | NM_012243.3(SLC35A3):c.465+18G>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003880105] | likely benign | 1 | 100007174 | 100007174 | Human | 1 | name |
| 597923873 | CV3863014 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-14A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005205502] | likely benign | 1 | 99999247 | 99999247 | Human | 1 | name |
| 13624155 | CV516208 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-10T>C | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651923] | likely benign | 1 | 99999251 | 99999251 | Human | 1 | name |
| 38458192 | CV939767 | single nucleotide variant | NM_012243.3(SLC35A3):c.888-10T>A | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001211181] | likely benign|uncertain significance | 1 | 100022376 | 100022376 | Human | 1 | name |
| 150409075 | CV1175098 | single nucleotide variant | NM_012243.3(SLC35A3):c.-19+415A>G | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001543789]|SLC35A3-related disorder [RCV003980676]|not provided [RCV001647391] | benign | 1 | 99970577 | 99970577 | Human | 1 | name , trait , alternate_id |
| 150416937 | CV1179315 | single nucleotide variant | NM_012243.3(SLC35A3):c.-18-299G>A | not provided [RCV001549894] | likely benign | 1 | 99993238 | 99993238 | Human | | name |
| 150426760 | CV1186012 | single nucleotide variant | NM_012243.3(SLC35A3):c.888-118C>T | not provided [RCV001559986] | likely benign | 1 | 100022268 | 100022268 | Human | | name |
| 150417177 | CV1196417 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-321C>T | not provided [RCV001576189] | likely benign | 1 | 100017361 | 100017361 | Human | | name |
| 150490361 | CV1208603 | single nucleotide variant | NM_012243.3(SLC35A3):c.-19+551T>A | not provided [RCV001592464] | likely benign | 1 | 99970713 | 99970713 | Human | | name |
| 150492237 | CV1210497 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-338A>G | not provided [RCV001592779] | likely benign | 1 | 100017344 | 100017344 | Human | | name |
| 150514690 | CV1212099 | single nucleotide variant | NM_012243.3(SLC35A3):c.635-145C>A | not provided [RCV001599168] | benign | 1 | 100015157 | 100015157 | Human | | name |
| 150438570 | CV1221180 | single nucleotide variant | NM_012243.3(SLC35A3):c.753+186C>A | not provided [RCV001609874] | benign | 1 | 100015606 | 100015606 | Human | | name |
| 150488462 | CV1237484 | duplication | NM_012243.3(SLC35A3):c.635-125dup | not provided [RCV001654333] | benign | 1 | 100015157 | 100015158 | Human | | name |
| 150469313 | CV1243137 | deletion | NM_012243.3(SLC35A3):c.635-125del | not provided [RCV001650656] | benign | 1 | 100015158 | 100015158 | Human | | name |
| 150502316 | CV1254490 | single nucleotide variant | NM_012243.3(SLC35A3):c.343-119A>G | not provided [RCV001677192] | benign | 1 | 100006915 | 100006915 | Human | | name |
| 150475675 | CV1263536 | single nucleotide variant | NM_012243.3(SLC35A3):c.635-150C>T | not provided [RCV001685059] | benign | 1 | 100015152 | 100015152 | Human | | name |
| 150467439 | CV1269230 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-179C>T | not provided [RCV001694638] | benign | 1 | 99999082 | 99999082 | Human | | name |
| 150470960 | CV1269969 | single nucleotide variant | NM_012243.3(SLC35A3):c.-19+697T>C | not provided [RCV001695256] | benign | 1 | 99970859 | 99970859 | Human | | name |
| 150498847 | CV1270721 | single nucleotide variant | NM_012243.3(SLC35A3):c.466-106T>G | not provided [RCV001689270] | benign | 1 | 100011259 | 100011259 | Human | | name |
| 150475657 | CV1271223 | single nucleotide variant | NM_012243.3(SLC35A3):c.754-229C>A | not provided [RCV001696046] | benign | 1 | 100017453 | 100017453 | Human | | name |
| 150497873 | CV1271414 | single nucleotide variant | NM_012243.3(SLC35A3):c.188-189T>C | not provided [RCV001689104] | benign | 1 | 99999072 | 99999072 | Human | | name |
| 150454516 | CV1277015 | single nucleotide variant | NM_012243.3(SLC35A3):c.634+217C>T | not provided [RCV001708806] | benign | 1 | 100011750 | 100011750 | Human | | name |
| 150505716 | CV1286261 | single nucleotide variant | NM_012243.3(SLC35A3):c.466-259G>A | not provided [RCV001719687] | benign | 1 | 100011106 | 100011106 | Human | | name |
| 150455664 | CV1259899 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[9] | not provided [RCV001681378] | benign | 1 | 100011684 | 100011699 | Human | | name |
| 150471572 | CV1270103 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[6] | not provided [RCV001695391] | benign | 1 | 100011684 | 100011711 | Human | | name |
| 152082871 | CV1589664 | deletion | NM_012243.3(SLC35A3):c.635-5_635-3del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002112996] | likely benign | 1 | 100015292 | 100015294 | Human | 1 | name |
| 405080207 | CV3045392 | microsatellite | NM_012243.3(SLC35A3):c.466-9_466-7del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743494] | likely benign | 1 | 100011351 | 100011353 | Human | | name |
| 15143712 | CV707621 | single nucleotide variant | NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) | Arthrogryposis multiplex congenita [RCV001274669]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000966713] | benign|uncertain significance | 1 | 99993560 | 99993560 | Human | 3 | name |
| 127271768 | CV1089473 | single nucleotide variant | NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001441944] | likely benign | 1 | 99993575 | 99993575 | Human | 1 | name |
| 150432282 | CV1200594 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[14] | not provided [RCV001581317] | likely benign | 1 | 100011683 | 100011684 | Human | | name |
| 150508528 | CV1229666 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[12] | not provided [RCV001636244] | benign | 1 | 100011684 | 100011687 | Human | | name |
| 150498901 | CV1270730 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[10] | not provided [RCV001689279] | benign | 1 | 100011684 | 100011695 | Human | | name |
| 150533257 | CV1292389 | microsatellite | NM_012243.3(SLC35A3):c.634+151TTAT[11] | not provided [RCV001753996] | benign | 1 | 100011684 | 100011691 | Human | | name |
| 152152068 | CV1664417 | single nucleotide variant | NM_012243.3(SLC35A3):c.12C>T (p.Asn4=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002158342] | likely benign | 1 | 99993566 | 99993566 | Human | 1 | name |
| 127235145 | CV1065914 | deletion | NM_012243.3(SLC35A3):c.887+13_887+17del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001414369] | likely benign | 1 | 100017824 | 100017828 | Human | 1 | name |
| 127275043 | CV1089474 | single nucleotide variant | NM_012243.3(SLC35A3):c.54C>G (p.Thr18=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001443160] | likely benign | 1 | 99993608 | 99993608 | Human | 1 | name |
| 127234848 | CV1089475 | single nucleotide variant | NM_012243.3(SLC35A3):c.63T>A (p.Val21=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001422144] | likely benign | 1 | 99993617 | 99993617 | Human | 1 | name |
| 156368716 | CV1904971 | single nucleotide variant | NM_012243.3(SLC35A3):c.28C>T (p.Leu10=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002582260] | likely benign | 1 | 99993582 | 99993582 | Human | 1 | name |
| 156131042 | CV1933903 | duplication | NM_012243.3(SLC35A3):c.634+11_634+12dup | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002640714] | likely benign | 1 | 100011542 | 100011543 | Human | 1 | name |
| 156031155 | CV2126521 | single nucleotide variant | NM_012243.3(SLC35A3):c.81C>G (p.Ser27=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002949232] | likely benign | 1 | 99993635 | 99993635 | Human | 1 | name |
| 156371966 | CV2174668 | single nucleotide variant | NM_012243.3(SLC35A3):c.96A>G (p.Glu32=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003049776] | likely benign | 1 | 99993650 | 99993650 | Human | 1 | name |
| 405134950 | CV2889371 | deletion | NM_012243.3(SLC35A3):c.635-14_635-13del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583534] | likely benign | 1 | 100015287 | 100015288 | Human | 1 | name |
| 405135882 | CV2894970 | single nucleotide variant | NM_012243.3(SLC35A3):c.42C>A (p.Val14=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583632] | likely benign | 1 | 99993596 | 99993596 | Human | 1 | name |
| 405137337 | CV2912012 | single nucleotide variant | NM_012243.3(SLC35A3):c.69A>T (p.Thr23=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583778] | likely benign | 1 | 99993623 | 99993623 | Human | 1 | name |
| 405084088 | CV2988796 | duplication | NM_012243.3(SLC35A3):c.187+18_187+19dup | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744208] | likely benign | 1 | 99993754 | 99993755 | Human | 1 | name |
| 405075740 | CV3017609 | microsatellite | NM_012243.3(SLC35A3):c.188-12_188-11del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743136] | likely benign | 1 | 99999247 | 99999248 | Human | | name |
| 405079274 | CV3037300 | deletion | NM_012243.3(SLC35A3):c.342+18_342+19del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743389] | likely benign | 1 | 99999432 | 99999433 | Human | 1 | name |
| 405079491 | CV3046525 | microsatellite | NM_012243.3(SLC35A3):c.342+22_342+25del | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743410] | likely benign | 1 | 99999430 | 99999433 | Human | | name |
| 13474891 | CV448523 | single nucleotide variant | NM_012243.3(SLC35A3):c.63T>G (p.Val21=) | Arthrogryposis multiplex congenita [RCV001275499]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000548469]|SLC35A3-related disorder [RCV003925696] | likely benign | 1 | 99993617 | 99993617 | Human | 3 | name , trait , alternate_id |
| 15143391 | CV690686 | single nucleotide variant | NM_012243.3(SLC35A3):c.42C>G (p.Val14=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000878046] | likely benign | 1 | 99993596 | 99993596 | Human | 1 | name |
| 127259636 | CV1067743 | single nucleotide variant | NM_012243.3(SLC35A3):c.201A>G (p.Arg67=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001419868]|not provided [RCV004728716] | likely benign|uncertain significance | 1 | 99999274 | 99999274 | Human | 1 | name |
| 127282024 | CV1089476 | single nucleotide variant | NM_012243.3(SLC35A3):c.174C>G (p.Val58=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001447573] | likely benign | 1 | 99993728 | 99993728 | Human | 1 | name |
| 127277003 | CV1089477 | single nucleotide variant | NM_012243.3(SLC35A3):c.198A>G (p.Leu66=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001444144] | likely benign | 1 | 99999271 | 99999271 | Human | 1 | name |
| 127293406 | CV1111005 | single nucleotide variant | NM_012243.3(SLC35A3):c.210T>C (p.Asn70=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001459223] | likely benign | 1 | 99999283 | 99999283 | Human | 1 | name |
| 151815245 | CV1458232 | deletion | NM_012243.3(SLC35A3):c.38del (p.Leu13fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001951076] | pathogenic | 1 | 99993589 | 99993589 | Human | 1 | name |
| 151819445 | CV1497590 | single nucleotide variant | NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001960201]|Inborn genetic diseases [RCV002561472] | pathogenic|likely pathogenic | 1 | 99993575 | 99993575 | Human | 2 | name |
| 151722886 | CV1516199 | single nucleotide variant | NM_012243.3(SLC35A3):c.174C>T (p.Val58=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002043895] | likely benign | 1 | 99993728 | 99993728 | Human | 1 | name |
| 152050937 | CV1527852 | single nucleotide variant | NM_012243.3(SLC35A3):c.267T>A (p.Ile89=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002089150] | likely benign | 1 | 99999340 | 99999340 | Human | 1 | name |
| 152066532 | CV1578826 | single nucleotide variant | NM_012243.3(SLC35A3):c.150G>A (p.Lys50=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002074527] | likely benign | 1 | 99993704 | 99993704 | Human | 1 | name |
| 152120221 | CV1654969 | single nucleotide variant | NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002216674] | likely benign | 1 | 99999355 | 99999355 | Human | 1 | name |
| 156415374 | CV1958343 | single nucleotide variant | NM_012243.3(SLC35A3):c.231T>C (p.Ile77=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002589131] | likely benign | 1 | 99999304 | 99999304 | Human | 1 | name |
| 156077548 | CV2053558 | deletion | NM_012243.3(SLC35A3):c.45del (p.Gln16fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002823748] | pathogenic | 1 | 99993597 | 99993597 | Human | 1 | name |
| 156301203 | CV2149847 | single nucleotide variant | NM_012243.3(SLC35A3):c.189A>G (p.Lys63=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003028101] | likely benign | 1 | 99999262 | 99999262 | Human | 1 | name |
| 156252608 | CV2162743 | single nucleotide variant | NM_012243.3(SLC35A3):c.126A>C (p.Ala42=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003026392] | likely benign | 1 | 99993680 | 99993680 | Human | 1 | name |
| 405094988 | CV2864146 | single nucleotide variant | NM_012243.3(SLC35A3):c.123A>G (p.Thr41=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583238] | likely benign | 1 | 99993677 | 99993677 | Human | 1 | name |
| 405136553 | CV2896235 | single nucleotide variant | NM_012243.3(SLC35A3):c.168A>G (p.Leu56=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583700] | likely benign | 1 | 99993722 | 99993722 | Human | 1 | name |
| 405086903 | CV3004332 | single nucleotide variant | NM_012243.3(SLC35A3):c.120T>A (p.Ser40=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744451] | likely benign | 1 | 99993674 | 99993674 | Human | 1 | name |
| 405075316 | CV3017295 | single nucleotide variant | NM_012243.3(SLC35A3):c.183C>T (p.Asp61=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743111] | likely benign | 1 | 99993737 | 99993737 | Human | 1 | name |
| 405185043 | CV3124164 | single nucleotide variant | NM_012243.3(SLC35A3):c.234T>G (p.Leu78=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003820362] | likely benign | 1 | 99999307 | 99999307 | Human | 1 | name |
| 405160146 | CV3152943 | single nucleotide variant | NM_012243.3(SLC35A3):c.147G>A (p.Leu49=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003840678] | likely benign | 1 | 99993701 | 99993701 | Human | 1 | name |
| 402465639 | CV3177314 | single nucleotide variant | NM_012243.3(SLC35A3):c.285T>C (p.Thr95=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003872945] | likely benign | 1 | 99999358 | 99999358 | Human | 1 | name |
| 597954693 | CV3809312 | single nucleotide variant | NM_012243.3(SLC35A3):c.270A>G (p.Pro90=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005162036] | likely benign | 1 | 99999343 | 99999343 | Human | 1 | name |
| 13477042 | CV448545 | single nucleotide variant | NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile) | Arthrogryposis multiplex congenita [RCV001275497]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000549410]|not provided [RCV001637082] | benign | 1 | 99993576 | 99993576 | Human | 3 | name |
| 13624154 | CV516201 | single nucleotide variant | NM_012243.3(SLC35A3):c.114A>G (p.Leu38=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651922] | likely benign | 1 | 99993668 | 99993668 | Human | 1 | name |
| 15180368 | CV762129 | single nucleotide variant | NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001441352] | likely benign | 1 | 99993731 | 99993731 | Human | 1 | name |
| 15108372 | CV780798 | single nucleotide variant | NM_012243.3(SLC35A3):c.252A>C (p.Thr84=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001441356] | likely benign | 1 | 99999325 | 99999325 | Human | 1 | name |
| 15137916 | CV780799 | single nucleotide variant | NM_012243.3(SLC35A3):c.264T>C (p.Ala88=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001424382] | likely benign | 1 | 99999337 | 99999337 | Human | 1 | name |
| 26902288 | CV824610 | single nucleotide variant | NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr) | Arthrogryposis multiplex congenita [RCV001274670]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001071837] | uncertain significance | 1 | 99993565 | 99993565 | Human | 3 | name |
| 127246611 | CV1065907 | single nucleotide variant | NM_012243.3(SLC35A3):c.525A>G (p.Gly175=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001398998] | likely benign | 1 | 100011424 | 100011424 | Human | 1 | name |
| 127244901 | CV1065908 | single nucleotide variant | NM_012243.3(SLC35A3):c.540C>T (p.Leu180=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001393785] | likely benign | 1 | 100011439 | 100011439 | Human | 1 | name |
| 127279271 | CV1065909 | single nucleotide variant | NM_012243.3(SLC35A3):c.693A>G (p.Val231=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001408977] | likely benign | 1 | 100015360 | 100015360 | Human | 1 | name |
| 127234633 | CV1065911 | single nucleotide variant | NM_012243.3(SLC35A3):c.759T>C (p.Leu253=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001414241] | likely benign | 1 | 100017687 | 100017687 | Human | 1 | name |
| 127278283 | CV1065912 | single nucleotide variant | NM_012243.3(SLC35A3):c.780T>C (p.Ala260=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001408396] | likely benign | 1 | 100017708 | 100017708 | Human | 1 | name |
| 127231189 | CV1065913 | single nucleotide variant | NM_012243.3(SLC35A3):c.885C>T (p.Thr295=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001412940] | likely benign | 1 | 100017813 | 100017813 | Human | 1 | name |
| 127242692 | CV1065915 | single nucleotide variant | NM_012243.3(SLC35A3):c.906C>T (p.Ala302=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001398225] | likely benign | 1 | 100022404 | 100022404 | Human | 1 | name |
| 127257890 | CV1065916 | single nucleotide variant | NM_012243.3(SLC35A3):c.975A>G (p.Ala325=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001419436] | likely benign | 1 | 100022473 | 100022473 | Human | 1 | name |
| 127268233 | CV1067744 | single nucleotide variant | NM_012243.3(SLC35A3):c.301C>T (p.Leu101=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001404344] | likely benign | 1 | 99999374 | 99999374 | Human | 1 | name |
| 127233686 | CV1087680 | single nucleotide variant | NM_012243.3(SLC35A3):c.624T>C (p.Asn208=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001421838] | likely benign | 1 | 100011523 | 100011523 | Human | 1 | name |
| 127233792 | CV1087681 | single nucleotide variant | NM_012243.3(SLC35A3):c.645A>T (p.Gly215=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001421875] | likely benign | 1 | 100015312 | 100015312 | Human | 1 | name |
| 127244046 | CV1087682 | single nucleotide variant | NM_012243.3(SLC35A3):c.966C>T (p.Pro322=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001424052] | likely benign | 1 | 100022464 | 100022464 | Human | 1 | name |
| 127305990 | CV1109173 | single nucleotide variant | NM_012243.3(SLC35A3):c.384T>G (p.Ser128=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001455373] | likely benign | 1 | 100007075 | 100007075 | Human | 1 | name |
| 127315837 | CV1109174 | single nucleotide variant | NM_012243.3(SLC35A3):c.858T>C (p.Tyr286=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001458069] | likely benign | 1 | 100017786 | 100017786 | Human | 1 | name |
| 127290764 | CV1111006 | single nucleotide variant | NM_012243.3(SLC35A3):c.327T>C (p.Asp109=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001451336] | likely benign | 1 | 99999400 | 99999400 | Human | 1 | name |
| 127315802 | CV1130081 | single nucleotide variant | NM_012243.3(SLC35A3):c.439T>C (p.Leu147=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001502841] | likely benign | 1 | 100007130 | 100007130 | Human | 1 | name |
| 127286555 | CV1130082 | single nucleotide variant | NM_012243.3(SLC35A3):c.462A>G (p.Val154=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001494399] | likely benign | 1 | 100007153 | 100007153 | Human | 1 | name |
| 127323927 | CV1130083 | single nucleotide variant | NM_012243.3(SLC35A3):c.528C>T (p.Leu176=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001505557] | likely benign | 1 | 100011427 | 100011427 | Human | 1 | name |
| 127325385 | CV1130084 | single nucleotide variant | NM_012243.3(SLC35A3):c.546A>G (p.Ala182=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001485793] | likely benign | 1 | 100011445 | 100011445 | Human | 1 | name |
| 127289963 | CV1130085 | single nucleotide variant | NM_012243.3(SLC35A3):c.702T>C (p.Asn234=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001495839] | likely benign | 1 | 100015369 | 100015369 | Human | 1 | name |
| 127336637 | CV1130086 | single nucleotide variant | NM_012243.3(SLC35A3):c.765C>T (p.Gly255=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001492323]|SLC35A3-related disorder [RCV003980425]|not provided [RCV004711687] | likely benign | 1 | 100017693 | 100017693 | Human | 1 | name , trait , alternate_id |
| 127316431 | CV1130088 | single nucleotide variant | NM_012243.3(SLC35A3):c.927T>G (p.Thr309=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001482833] | likely benign | 1 | 100022425 | 100022425 | Human | 1 | name |
| 127326240 | CV1131875 | single nucleotide variant | NM_012243.3(SLC35A3):c.300A>G (p.Leu100=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001485984] | likely benign | 1 | 99999373 | 99999373 | Human | 1 | name |
| 127333082 | CV1131876 | single nucleotide variant | NM_012243.3(SLC35A3):c.303G>A (p.Leu101=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001489931] | likely benign | 1 | 99999376 | 99999376 | Human | 1 | name |
| 150515300 | CV1227512 | duplication | NM_012243.3(SLC35A3):c.187+168_187+172dup | not provided [RCV001638785] | benign | 1 | 99993907 | 99993908 | Human | | name |
| 150460194 | CV1236211 | deletion | NM_012243.3(SLC35A3):c.635-126_635-125del | not provided [RCV001649182] | benign | 1 | 100015158 | 100015159 | Human | | name |
| 150458646 | CV1248967 | duplication | NM_012243.3(SLC35A3):c.635-126_635-125dup | not provided [RCV001669144] | benign | 1 | 100015157 | 100015158 | Human | | name |
| 150477952 | CV1252095 | deletion | NM_012243.3(SLC35A3):c.888-239_888-238del | not provided [RCV001672295] | benign | 1 | 100022147 | 100022148 | Human | | name |
| 151722826 | CV1433975 | single nucleotide variant | NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002043721] | uncertain significance | 1 | 99993603 | 99993603 | Human | 1 | name |
| 152159718 | CV1522699 | single nucleotide variant | NM_012243.3(SLC35A3):c.672C>T (p.Tyr224=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002140708] | likely benign | 1 | 100015339 | 100015339 | Human | 1 | name |
| 152044119 | CV1534390 | single nucleotide variant | NM_012243.3(SLC35A3):c.549T>C (p.Cys183=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002088342] | likely benign | 1 | 100011448 | 100011448 | Human | 1 | name |
| 152094146 | CV1565704 | single nucleotide variant | NM_012243.3(SLC35A3):c.594A>G (p.Lys198=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002150975] | likely benign | 1 | 100011493 | 100011493 | Human | 1 | name |
| 152026610 | CV1582974 | single nucleotide variant | NM_012243.3(SLC35A3):c.942T>C (p.Tyr314=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002084857] | likely benign | 1 | 100022440 | 100022440 | Human | 1 | name |
| 152161281 | CV1619348 | single nucleotide variant | NM_012243.3(SLC35A3):c.570G>A (p.Gly190=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002159683] | likely benign | 1 | 100011469 | 100011469 | Human | 1 | name |
| 152033760 | CV1621356 | single nucleotide variant | NM_012243.3(SLC35A3):c.762A>T (p.Gly254=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002205234] | likely benign | 1 | 100017690 | 100017690 | Human | 1 | name |
| 152153274 | CV1623372 | single nucleotide variant | NM_012243.3(SLC35A3):c.330A>G (p.Ala110=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002221141] | likely benign | 1 | 99999403 | 99999403 | Human | 1 | name |
| 152162917 | CV1635818 | single nucleotide variant | NM_012243.3(SLC35A3):c.822C>T (p.Thr274=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002203744] | likely benign | 1 | 100017750 | 100017750 | Human | 1 | name |
| 152035720 | CV1635967 | single nucleotide variant | NM_012243.3(SLC35A3):c.471C>T (p.Pro157=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002106942] | likely benign | 1 | 100011370 | 100011370 | Human | 1 | name |
| 152150477 | CV1636296 | single nucleotide variant | NM_012243.3(SLC35A3):c.561C>T (p.Gly187=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002102152] | likely benign | 1 | 100011460 | 100011460 | Human | 1 | name |
| 152064000 | CV1644897 | single nucleotide variant | NM_012243.3(SLC35A3):c.348G>T (p.Thr116=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002147148] | likely benign | 1 | 100007039 | 100007039 | Human | 1 | name |
| 152131494 | CV1647735 | single nucleotide variant | NM_012243.3(SLC35A3):c.669A>G (p.Val223=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002082924] | likely benign | 1 | 100015336 | 100015336 | Human | 1 | name |
| 152146850 | CV1653513 | single nucleotide variant | NM_012243.3(SLC35A3):c.771A>G (p.Val257=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002138924] | likely benign | 1 | 100017699 | 100017699 | Human | 1 | name |
| 152982126 | CV1679096 | single nucleotide variant | NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002248442]|not specified [RCV005406414] | pathogenic|uncertain significance | 1 | 99993628 | 99993628 | Human | 1 | name |
| 152982127 | CV1679097 | single nucleotide variant | NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002248443]|not specified [RCV003331337] | pathogenic|uncertain significance | 1 | 99993627 | 99993627 | Human | 1 | name |
| 156240608 | CV1882424 | single nucleotide variant | NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003085727] | likely benign | 1 | 99999412 | 99999412 | Human | 1 | name |
| 156442523 | CV1938749 | single nucleotide variant | NM_012243.3(SLC35A3):c.756A>T (p.Ala252=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003112868] | likely benign | 1 | 100017684 | 100017684 | Human | 1 | name |
| 156447371 | CV1945018 | single nucleotide variant | NM_012243.3(SLC35A3):c.726A>C (p.Arg242=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003118899] | likely benign | 1 | 100015393 | 100015393 | Human | 1 | name |
| 156377066 | CV2024823 | single nucleotide variant | NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002722009] | uncertain significance | 1 | 99993630 | 99993630 | Human | 1 | name |
| 156083216 | CV2060277 | single nucleotide variant | NM_012243.3(SLC35A3):c.771A>C (p.Val257=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002823924] | likely benign | 1 | 100017699 | 100017699 | Human | 1 | name |
| 156330898 | CV2065338 | single nucleotide variant | NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002835292] | likely benign | 1 | 100017720 | 100017720 | Human | 1 | name |
| 155963279 | CV2080586 | single nucleotide variant | NM_012243.3(SLC35A3):c.513T>C (p.Ser171=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002862961] | likely benign | 1 | 100011412 | 100011412 | Human | 1 | name |
| 156317109 | CV2082530 | single nucleotide variant | NM_012243.3(SLC35A3):c.843A>C (p.Ser281=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002899059] | likely benign | 1 | 100017771 | 100017771 | Human | 1 | name |
| 156315095 | CV2120294 | single nucleotide variant | NM_012243.3(SLC35A3):c.975A>C (p.Ala325=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002962850] | likely benign | 1 | 100022473 | 100022473 | Human | 1 | name |
| 156176330 | CV2144790 | single nucleotide variant | NM_012243.3(SLC35A3):c.471C>A (p.Pro157=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003005562] | likely benign | 1 | 100011370 | 100011370 | Human | 1 | name |
| 156146776 | CV2178846 | single nucleotide variant | NM_012243.3(SLC35A3):c.579T>C (p.Phe193=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003040236] | likely benign | 1 | 100011478 | 100011478 | Human | 1 | name |
| 156348851 | CV2191521 | single nucleotide variant | NM_012243.3(SLC35A3):c.429C>T (p.Ser143=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003048178] | likely benign | 1 | 100007120 | 100007120 | Human | 1 | name |
| 405095767 | CV2856682 | single nucleotide variant | NM_012243.3(SLC35A3):c.951A>G (p.Lys317=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583336] | likely benign | 1 | 100022449 | 100022449 | Human | 1 | name |
| 405095485 | CV2859726 | single nucleotide variant | NM_012243.3(SLC35A3):c.546A>T (p.Ala182=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583308] | likely benign | 1 | 100011445 | 100011445 | Human | 1 | name |
| 405095310 | CV2862547 | single nucleotide variant | NM_012243.3(SLC35A3):c.534A>G (p.Ala178=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583289] | likely benign | 1 | 100011433 | 100011433 | Human | 1 | name |
| 405133958 | CV2873841 | single nucleotide variant | NM_012243.3(SLC35A3):c.687A>G (p.Glu229=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583342] | likely benign | 1 | 100015354 | 100015354 | Human | 1 | name |
| 405096114 | CV2878302 | single nucleotide variant | NM_012243.3(SLC35A3):c.741A>G (p.Val247=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583370] | likely benign | 1 | 100015408 | 100015408 | Human | 1 | name |
| 405135491 | CV2887190 | single nucleotide variant | NM_012243.3(SLC35A3):c.313C>T (p.Leu105=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583591] | likely benign | 1 | 99999386 | 99999386 | Human | 1 | name |
| 405136977 | CV2901218 | single nucleotide variant | NM_012243.3(SLC35A3):c.474A>G (p.Ser158=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583743] | likely benign | 1 | 100011373 | 100011373 | Human | 1 | name |
| 405136115 | CV2902467 | single nucleotide variant | NM_012243.3(SLC35A3):c.891C>A (p.Val297=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583657] | likely benign | 1 | 100022389 | 100022389 | Human | 1 | name |
| 405138305 | CV2913875 | single nucleotide variant | NM_012243.3(SLC35A3):c.900T>A (p.Leu300=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583850] | likely benign | 1 | 100022398 | 100022398 | Human | 1 | name |
| 405137891 | CV2915591 | single nucleotide variant | NM_012243.3(SLC35A3):c.597A>G (p.Glu199=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583806] | likely benign | 1 | 100011496 | 100011496 | Human | 1 | name |
| 405138929 | CV2926228 | single nucleotide variant | NM_012243.3(SLC35A3):c.612G>A (p.Val204=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583938] | likely benign | 1 | 100011511 | 100011511 | Human | 1 | name |
| 405139458 | CV2929951 | single nucleotide variant | NM_012243.3(SLC35A3):c.600A>C (p.Thr200=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583991] | likely benign | 1 | 100011499 | 100011499 | Human | 1 | name |
| 405095353 | CV2950138 | single nucleotide variant | NM_012243.3(SLC35A3):c.846A>G (p.Thr282=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745795] | likely benign | 1 | 100017774 | 100017774 | Human | 1 | name |
| 405082029 | CV2972730 | single nucleotide variant | NM_012243.3(SLC35A3):c.430C>T (p.Leu144=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744064] | likely benign | 1 | 100007121 | 100007121 | Human | 1 | name |
| 405082978 | CV2980755 | single nucleotide variant | NM_012243.3(SLC35A3):c.798T>C (p.Asp266=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744147] | likely benign | 1 | 100017726 | 100017726 | Human | 1 | name |
| 405083001 | CV2987323 | single nucleotide variant | NM_012243.3(SLC35A3):c.411T>A (p.Gly137=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744149] | likely benign | 1 | 100007102 | 100007102 | Human | 1 | name |
| 405085424 | CV2990573 | single nucleotide variant | NM_012243.3(SLC35A3):c.894T>C (p.Phe298=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744311] | likely benign | 1 | 100022392 | 100022392 | Human | 1 | name |
| 405087253 | CV2999377 | single nucleotide variant | NM_012243.3(SLC35A3):c.852C>A (p.Ile284=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744388] | likely benign | 1 | 100017780 | 100017780 | Human | 1 | name |
| 405079909 | CV3051409 | single nucleotide variant | NM_012243.3(SLC35A3):c.945T>C (p.Asp315=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743466] | likely benign | 1 | 100022443 | 100022443 | Human | 1 | name |
| 405089870 | CV3062294 | single nucleotide variant | NM_012243.3(SLC35A3):c.570G>T (p.Gly190=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745115] | likely benign | 1 | 100011469 | 100011469 | Human | 1 | name |
| 405091065 | CV3071332 | single nucleotide variant | NM_012243.3(SLC35A3):c.732C>T (p.Thr244=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745205] | likely benign | 1 | 100015399 | 100015399 | Human | 1 | name |
| 405091665 | CV3074535 | single nucleotide variant | NM_012243.3(SLC35A3):c.807A>G (p.Leu269=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745249] | likely benign | 1 | 100017735 | 100017735 | Human | 1 | name |
| 405224756 | CV3142242 | single nucleotide variant | NM_012243.3(SLC35A3):c.756A>G (p.Ala252=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003847781] | likely benign | 1 | 100017684 | 100017684 | Human | 1 | name |
| 13624157 | CV514859 | single nucleotide variant | NM_012243.3(SLC35A3):c.585A>G (p.Lys195=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001436324] | likely benign | 1 | 100011484 | 100011484 | Human | 1 | name |
| 13624153 | CV514906 | single nucleotide variant | NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651921] | likely benign|uncertain significance | 1 | 100011505 | 100011505 | Human | 1 | name |
| 13813072 | CV557414 | single nucleotide variant | NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile) | Arthrogryposis multiplex congenita [RCV001275498]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000689894] | uncertain significance | 1 | 99993594 | 99993594 | Human | 3 | name |
| 14732740 | CV628362 | single nucleotide variant | NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000818416] | uncertain significance | 1 | 99993628 | 99993628 | Human | 1 | name |
| 14720769 | CV655018 | single nucleotide variant | NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) | Arthrogryposis multiplex congenita [RCV001274672]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001517598]|not provided [RCV000831370] | benign | 1 | 100007048 | 100007048 | Human | 3 | name |
| 15152760 | CV695915 | single nucleotide variant | NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000945944] | likely benign | 1 | 100011382 | 100011382 | Human | 1 | name |
| 15142933 | CV706511 | single nucleotide variant | NM_012243.3(SLC35A3):c.543A>T (p.Thr181=) | Arthrogryposis multiplex congenita [RCV001274673]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000966578] | likely benign|uncertain significance | 1 | 100011442 | 100011442 | Human | 3 | name |
| 15132457 | CV706512 | single nucleotide variant | NM_012243.3(SLC35A3):c.831G>A (p.Ser277=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000964780] | likely benign | 1 | 100017759 | 100017759 | Human | 1 | name |
| 15132298 | CV706513 | single nucleotide variant | NM_012243.3(SLC35A3):c.933G>A (p.Leu311=) | Arthrogryposis multiplex congenita [RCV001274675]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000964752]|SLC35A3-related disorder [RCV003943137] | likely benign|uncertain significance | 1 | 100022431 | 100022431 | Human | 3 | name , trait , alternate_id |
| 15186811 | CV718029 | single nucleotide variant | NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000887078]|SLC35A3-related disorder [RCV003955924] | likely benign | 1 | 100007066 | 100007066 | Human | 1 | name , trait , alternate_id |
| 15195128 | CV718030 | single nucleotide variant | NM_012243.3(SLC35A3):c.414A>G (p.Val138=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001482335] | likely benign | 1 | 100007105 | 100007105 | Human | 1 | name |
| 15117178 | CV731499 | single nucleotide variant | NM_012243.3(SLC35A3):c.348G>A (p.Thr116=) | Arthrogryposis multiplex congenita [RCV001275500]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000895332] | likely benign | 1 | 100007039 | 100007039 | Human | 3 | name |
| 15183545 | CV731500 | single nucleotide variant | NM_012243.3(SLC35A3):c.957A>G (p.Ala319=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000908082] | likely benign | 1 | 100022455 | 100022455 | Human | 1 | name |
| 15127410 | CV745484 | single nucleotide variant | NM_012243.3(SLC35A3):c.355T>C (p.Leu119=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000919489] | likely benign | 1 | 100007046 | 100007046 | Human | 1 | name |
| 15155682 | CV745485 | single nucleotide variant | NM_012243.3(SLC35A3):c.406T>C (p.Leu136=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001476442] | likely benign | 1 | 100007097 | 100007097 | Human | 1 | name |
| 15122600 | CV780239 | single nucleotide variant | NM_012243.3(SLC35A3):c.780T>A (p.Ala260=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002550552] | likely benign | 1 | 100017708 | 100017708 | Human | 1 | name |
| 26914741 | CV824611 | single nucleotide variant | NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001040874] | uncertain significance | 1 | 99993598 | 99993598 | Human | 1 | name |
| 38475677 | CV921530 | single nucleotide variant | NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001215291] | likely benign|uncertain significance | 1 | 100011415 | 100011415 | Human | 1 | name |
| 38483233 | CV921531 | single nucleotide variant | NM_012243.3(SLC35A3):c.753G>A (p.Gln251=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001218846] | uncertain significance | 1 | 100015420 | 100015420 | Human | 1 | name |
| 40905580 | CV977419 | single nucleotide variant | NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001278806] | likely benign | 1 | 100007069 | 100007069 | Human | 1 | name |
| 127269168 | CV1058364 | duplication | NM_012243.3(SLC35A3):c.711dup (p.Gln238fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001382330] | pathogenic | 1 | 100015372 | 100015373 | Human | 1 | name |
| 127243768 | CV1058897 | single nucleotide variant | NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001384087] | pathogenic | 1 | 99999284 | 99999284 | Human | 1 | name |
| 151711317 | CV1497487 | single nucleotide variant | NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002002087]|not provided [RCV003481204] | uncertain significance | 1 | 99999267 | 99999267 | Human | 1 | name |
| 156370320 | CV1920135 | single nucleotide variant | NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002603120] | uncertain significance | 1 | 99999321 | 99999321 | Human | 1 | name |
| 156069003 | CV1928026 | single nucleotide variant | NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002638538] | uncertain significance | 1 | 99999342 | 99999342 | Human | 1 | name |
| 156314363 | CV2063658 | deletion | NM_012243.3(SLC35A3):c.699del (p.Asn234fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002834309] | pathogenic | 1 | 100015366 | 100015366 | Human | 1 | name |
| 156126212 | CV2158452 | deletion | NM_012243.3(SLC35A3):c.783del (p.Ile262fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003021995] | pathogenic | 1 | 100017710 | 100017710 | Human | 1 | name |
| 156022972 | CV2223367 | single nucleotide variant | NM_012243.3(SLC35A3):c.175T>C (p.Tyr59His) | Inborn genetic diseases [RCV002757465] | uncertain significance | 1 | 99993729 | 99993729 | Human | 1 | name |
| 329382927 | CV2445678 | single nucleotide variant | NM_012243.3(SLC35A3):c.104C>G (p.Pro35Arg) | Inborn genetic diseases [RCV003176151] | uncertain significance | 1 | 99993658 | 99993658 | Human | 1 | name |
| 597626893 | CV3603066 | single nucleotide variant | NM_012243.3(SLC35A3):c.209A>T (p.Asn70Ile) | Inborn genetic diseases [RCV004966290] | uncertain significance | 1 | 99999282 | 99999282 | Human | 1 | name |
| 597626896 | CV3603067 | single nucleotide variant | NM_012243.3(SLC35A3):c.247G>A (p.Glu83Lys) | Inborn genetic diseases [RCV004966291] | uncertain significance | 1 | 99999320 | 99999320 | Human | 1 | name |
| 597629362 | CV3719510 | duplication | NM_012243.3(SLC35A3):c.586dup (p.Ile196fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005022840] | likely pathogenic | 1 | 100011481 | 100011482 | Human | 1 | name |
| 597668931 | CV3725974 | deletion | NM_012243.3(SLC35A3):c.16_20del (p.Lys6fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005004639] | likely pathogenic | 1 | 99993568 | 99993572 | Human | 1 | name |
| 13801938 | CV556505 | duplication | NM_012243.3(SLC35A3):c.680dup (p.Asp227fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000698063] | pathogenic|likely pathogenic | 1 | 100015346 | 100015347 | Human | 1 | name |
| 38493071 | CV922203 | single nucleotide variant | NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001224017] | uncertain significance | 1 | 99999264 | 99999264 | Human | 1 | name |
| 38478777 | CV930742 | single nucleotide variant | NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001205695]|Inborn genetic diseases [RCV005278757] | uncertain significance | 1 | 99993657 | 99993657 | Human | 2 | name |
| 38472130 | CV930743 | single nucleotide variant | NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001203042] | uncertain significance | 1 | 99999351 | 99999351 | Human | 1 | name |
| 38461756 | CV942174 | single nucleotide variant | NM_012243.3(SLC35A3):c.107G>A (p.Arg36His) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001229595] | uncertain significance | 1 | 99993661 | 99993661 | Human | 1 | name |
| 126756539 | CV1001938 | single nucleotide variant | NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001317225] | uncertain significance | 1 | 100011498 | 100011498 | Human | 1 | name |
| 126770954 | CV1022442 | single nucleotide variant | NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001344766] | uncertain significance | 1 | 100017815 | 100017815 | Human | 1 | name |
| 151809792 | CV1366921 | single nucleotide variant | NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001939461] | pathogenic | 1 | 100011494 | 100011494 | Human | 1 | name |
| 151796629 | CV1503031 | single nucleotide variant | NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001914135] | pathogenic | 1 | 100017770 | 100017770 | Human | 1 | name |
| 156220931 | CV1899778 | single nucleotide variant | NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003084993] | uncertain significance | 1 | 100015403 | 100015403 | Human | 1 | name |
| 156434983 | CV1940284 | single nucleotide variant | NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003104698] | uncertain significance | 1 | 100015405 | 100015405 | Human | 1 | name |
| 156398629 | CV1965936 | single nucleotide variant | NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002584632]|Inborn genetic diseases [RCV003167440] | uncertain significance | 1 | 100011376 | 100011376 | Human | 2 | name |
| 156340105 | CV2092639 | single nucleotide variant | NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002900428] | pathogenic | 1 | 100011514 | 100011514 | Human | 1 | name |
| 156263320 | CV2138789 | single nucleotide variant | NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002988546] | pathogenic | 1 | 100015402 | 100015402 | Human | 1 | name |
| 156174694 | CV2166236 | single nucleotide variant | NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003023630] | uncertain significance | 1 | 100017724 | 100017724 | Human | 1 | name |
| 156002820 | CV2170272 | single nucleotide variant | NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003017355] | pathogenic | 1 | 99999413 | 99999413 | Human | 1 | name |
| 156328844 | CV2216279 | single nucleotide variant | NM_012243.3(SLC35A3):c.571G>A (p.Val191Ile) | Inborn genetic diseases [RCV002717745] | uncertain significance | 1 | 100011470 | 100011470 | Human | 1 | name |
| 156300459 | CV2244913 | single nucleotide variant | NM_012243.3(SLC35A3):c.626T>C (p.Ile209Thr) | Inborn genetic diseases [RCV002748496] | uncertain significance | 1 | 100011525 | 100011525 | Human | 1 | name |
| 405094138 | CV2948236 | single nucleotide variant | NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003745706] | pathogenic | 1 | 100017739 | 100017739 | Human | 1 | name |
| 405225607 | CV3142391 | single nucleotide variant | NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003847930] | pathogenic | 1 | 100007114 | 100007114 | Human | 1 | name |
| 405784217 | CV3332682 | single nucleotide variant | NM_012243.3(SLC35A3):c.962A>G (p.Asn321Ser) | Inborn genetic diseases [RCV004459200] | uncertain significance | 1 | 100022460 | 100022460 | Human | 1 | name |
| 407509937 | CV3484394 | single nucleotide variant | NM_012243.3(SLC35A3):c.607T>G (p.Ser203Ala) | Inborn genetic diseases [RCV004672566] | uncertain significance | 1 | 100011506 | 100011506 | Human | 1 | name |
| 597626891 | CV3603064 | single nucleotide variant | NM_012243.3(SLC35A3):c.469C>T (p.Pro157Ser) | Inborn genetic diseases [RCV004966289] | uncertain significance | 1 | 100011368 | 100011368 | Human | 1 | name |
| 597626899 | CV3603068 | single nucleotide variant | NM_012243.3(SLC35A3):c.460G>T (p.Val154Leu) | Inborn genetic diseases [RCV004966292] | uncertain significance | 1 | 100007151 | 100007151 | Human | 1 | name |
| 597890502 | CV3839757 | single nucleotide variant | NM_012243.3(SLC35A3):c.713A>T (p.Gln238Leu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV005179649] | uncertain significance | 1 | 100015380 | 100015380 | Human | 1 | name |
| 598237103 | CV3914747 | single nucleotide variant | NM_012243.3(SLC35A3):c.580G>C (p.Glu194Gln) | Inborn genetic diseases [RCV005275590] | uncertain significance | 1 | 100011479 | 100011479 | Human | 1 | name |
| 598237105 | CV3914748 | single nucleotide variant | NM_012243.3(SLC35A3):c.466T>C (p.Trp156Arg) | Inborn genetic diseases [RCV005275591] | uncertain significance | 1 | 100011365 | 100011365 | Human | 1 | name |
| 13473772 | CV446969 | single nucleotide variant | NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000525530]|Inborn genetic diseases [RCV002526703] | uncertain significance | 1 | 100007096 | 100007096 | Human | 2 | name |
| 13496824 | CV446972 | single nucleotide variant | NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000538105]|not provided [RCV004714069] | benign | 1 | 100011430 | 100011430 | Human | 1 | name |
| 13624149 | CV514863 | single nucleotide variant | NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651917] | uncertain significance | 1 | 100022457 | 100022457 | Human | 1 | name |
| 13624148 | CV514883 | single nucleotide variant | NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651916] | uncertain significance | 1 | 100015415 | 100015415 | Human | 1 | name |
| 13624152 | CV514890 | single nucleotide variant | NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651920] | uncertain significance | 1 | 100017755 | 100017755 | Human | 1 | name |
| 13624147 | CV514899 | single nucleotide variant | NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000651915]|not provided [RCV000731886] | pathogenic|likely pathogenic|uncertain significance | 1 | 100011380 | 100011380 | Human | 1 | name |
| 13809426 | CV556507 | single nucleotide variant | NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000687763] | uncertain significance | 1 | 100017706 | 100017706 | Human | 1 | name |
| 13809196 | CV556535 | single nucleotide variant | NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp) | Arthrogryposis multiplex congenita [RCV001275502]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000687644] | uncertain significance | 1 | 100015367 | 100015367 | Human | 3 | name |
| 13803837 | CV556886 | single nucleotide variant | NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000685046] | uncertain significance | 1 | 100007143 | 100007143 | Human | 1 | name |
| 14716707 | CV626464 | single nucleotide variant | NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met) | Arthrogryposis multiplex congenita [RCV001274671]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000811663] | uncertain significance | 1 | 100007038 | 100007038 | Human | 3 | name |
| 26907545 | CV822351 | single nucleotide variant | NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser) | Arthrogryposis multiplex congenita [RCV001275501]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001038012]|Inborn genetic diseases [RCV002551404]|not provided [RCV003229010] | uncertain significance | 1 | 100007100 | 100007100 | Human | 4 | name |
| 26889006 | CV822352 | single nucleotide variant | NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001067307] | uncertain significance | 1 | 100011447 | 100011447 | Human | 1 | name |
| 26898135 | CV822353 | single nucleotide variant | NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001070566] | uncertain significance | 1 | 100015392 | 100015392 | Human | 1 | name |
| 26898531 | CV822354 | single nucleotide variant | NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001070679] | pathogenic | 1 | 100015418 | 100015418 | Human | 1 | name |
| 38462769 | CV918536 | single nucleotide variant | NM_012243.3(SLC35A3):c.470C>T (p.Pro157Leu) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001196735]|Inborn genetic diseases [RCV004963172] | uncertain significance | 1 | 100011369 | 100011369 | Human | 2 | name |
| 38475685 | CV930744 | single nucleotide variant | NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001204357] | uncertain significance | 1 | 99999402 | 99999402 | Human | 1 | name |
| 38475253 | CV941321 | single nucleotide variant | NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001232543] | pathogenic|likely pathogenic | 1 | 100015391 | 100015391 | Human | 1 | name |
| 8573714 | CV94575 | single nucleotide variant | NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000074503] | pathogenic | 1 | 100011413 | 100011413 | Human | 1 | name |
| 8639040 | CV94576 | single nucleotide variant | NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000074504]|not provided [RCV001588895] | pathogenic | 1 | 100017814 | 100017814 | Human | 1 | name |
| 40905579 | CV977574 | single nucleotide variant | NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001278805]|not specified [RCV004690051] | uncertain significance | 1 | 99999401 | 99999401 | Human | 1 | name |
| 156199612 | CV1916680 | microsatellite | NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002595655] | uncertain significance | 1 | 99993646 | 99993648 | Human | | name |
| 405151117 | CV3162917 | deletion | NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003856360] | pathogenic | 1 | 99999360 | 99999361 | Human | 1 | name |
| 596928161 | CV3541391 | microsatellite | NM_012243.3(SLC35A3):c.201_202del (p.Arg67fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV004797263] | likely pathogenic | 1 | 99999272 | 99999273 | Human | | name |
| 151811115 | CV1441643 | deletion | NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001942224] | pathogenic|likely pathogenic | 1 | 100011490 | 100011494 | Human | 1 | name |
| 156435883 | CV1937211 | deletion | NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003105077] | pathogenic | 1 | 100017682 | 100017683 | Human | 1 | name |
| 243060642 | CV2408642 | deletion | NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003136771] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 100017753 | 100017754 | Human | 1 | name |
| 405135891 | CV2894982 | deletion | NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583633] | pathogenic | 1 | 100011486 | 100011487 | Human | 1 | name |
| 405086844 | CV3003958 | deletion | NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003744447] | pathogenic | 1 | 100011508 | 100011509 | Human | 1 | name |
| 14719907 | CV626465 | duplication | NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000796407] | pathogenic | 1 | 100017688 | 100017689 | Human | 1 | name |
| 152982128 | CV1679098 | indel | NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV002248444] | pathogenic | 1 | 100022397 | 100022398 | Human | | name |
| 405140242 | CV2932336 | deletion | NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003583964] | pathogenic | 1 | 99999278 | 99999278 | Human | 1 | name |
| 151832596 | CV1340894 | deletion | NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001987403] | pathogenic | 1 | 100011419 | 100011419 | Human | 1 | name |
| 127265295 | CV1058898 | insertion | NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001381427] | pathogenic | 1 | 99999292 | 99999293 | Human | 1 | name |
| 405074616 | CV3012904 | microsatellite | NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs) | Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV003743067] | pathogenic | 1 | 100011489 | 100011490 | Human | | name |
